scholarly journals Donnai–Barrow syndrome in nephrology practice

2021 ◽  
Vol 66 (1) ◽  
pp. 106-112
Author(s):  
M. E. Aksenova ◽  
N. M. Zaikova ◽  
T. V. Lepaeva ◽  
V. V. Dlin
Keyword(s):  
Molecular Weight ◽  
Patient Management ◽  
Clinical Manifestations ◽  
Low Molecular Weight ◽  
Tubular Dysfunction ◽  
Progressive Myopia ◽  
Endosomal Transport ◽  
System Disorder ◽  
Variable Combination ◽  
Degrees Of Severity

Donnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, including different renal disorders. One patient had isolated low-molecular-weight proteinuria, another patient suffered from proteinuria, hypercalciuria, nephrocalcinosis. Disruption of megaline-mediated endocytosis, retrograde endosomal transport of ligands, mitochondrial dysfunction, stress of the endoplasmic reticulum can lead to a different spectrum and various degrees of severity of tubular dysfunction in Donnai-Barrow syndrome. A variety of clinical manifestations of the disease can lead to a low diagnosis of Donnai-Barrow syndrome and inadequate patient management.

Hepatoprotective therapy with low molecular weight sugar drug for pregnant women with liver dysfunction amid early toxicosis and hepatotoxicity

2021 ◽  
Vol 20 (2) ◽  
pp. 19-28
Author(s):  
E.V. Mozgovaya ◽  
◽  
M.A. Kryshnya ◽  
E.V. Shelaeva ◽  
S.V. Nagorneva ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Pregnant Women ◽  
Bile Acids ◽  
Alanine Aminotransferase ◽  
Clinical Manifestations ◽  
Main Group ◽  
Control Group ◽  
Low Molecular Weight ◽  
Sugar Solution ◽  
Drug Induced

Objective. To assess the efficacy and safety of low molecular weight sugar solution as a hepatoprotector in the first trimester of pregnancy in patients with liver functional disorders against the background of early toxicosis and / or hepatotoxicity. Patients and methods. The study included 70 patients: the main group (n = 30) – pregnant women with functional hepatopathies who received therapy with drug Heptrong; the control group (n = 30) – pregnant women who received standard treatment, of which 15 patients had hepatotoxicity (essential phospholipid therapy) and 15 patients with early toxicosis (intravenous saline fluid therapy, Cerucal), as well as 10 pregnant women with early toxicosis who were treated without drugs (the placebo group). Results. Pregnant women with early toxicosis noted a decrease in its clinical manifestations against the use of the drug Heptrong after 2.3 ± 0.8 days from the onset of therapy; by the end of therapy, all patients had no vomiting, and nausea stopped in 80%, which was not observed in comparison groups. The normalization of alanine aminotransferase (≤40 U/L) occurred in 80% of pregnant women in the main group (p < 0.01) and in 66% (p < 0.01) when treating with essential phospholipids. The normalization of alanine aminotransferase (≤40 U/L) occurred in 90% (p < 0.01) and 33.3% (p = 0.03), respectively. A significant decrease in the level of bile acids (from 8.49 ± 2.1 μmol/L to 2.74 ± 1.1 μmol/L; p < 0.05) and improvement in the indicators of the antioxidant system – an increase in total antiradical activity (from 804.0.0 ± 10.5 μmol/L to 839.0 ± 11.0 μmol/L; p < 0.05) and a decrease in the level of conjugated dienes (from 3.77 ± 0.2 μmol/L to 3.26 ± ± 0.1 μmol/L; p < 0.05) – were observed only in the main group. A number of other indicators of the “liver panel” tended to improve only in the main group. Conclusion. Heptrong is an effective hepatoprotective drug, which considerably improves the state of pregnant women during early toxicosis and helps to reduce liver transaminases and bile acids in pregnant women with hepatotoxicity. Due to the antiinflammatory and pronounced antioxidant effect, which is not observed in standard pharmacological treatment, Heptrong can be used to prevent late obstetric complications. Key words: Heptrong, drug-induced hepatopathies, “liver panel” indicators, early toxicosis

Reversibility of renal tubular dysfunction in streptozotocin-induced diabetes in the rat

1992 ◽  
Vol 70 (7) ◽  
pp. 977-982 ◽  
Author(s):  
S. Chouinard ◽  
C. Viau
Keyword(s):  
Molecular Weight ◽  
Urinary Excretion ◽  
Insulin Treatment ◽  
Diabetic Rats ◽  
Control Group ◽  
Low Molecular Weight ◽  
Tubular Dysfunction ◽  
Alanine Aminopeptidase ◽  
Group A ◽  
Streptozotocin Induced Diabetes

Enzymuria and specific proteinuria were examined over a period of 19 days in 4 groups of 5 rats: a control group, a non-diabetic polyuric group, a group of streptozotocin-induced diabetic rats treated with insulin as of the 10th day after the injection of the drug, and a similar group of untreated diabetic rats. Increased urinary excretion of β-N-acetyl-D-glucosaminidase, lactate dehydrogenase, and alanine aminopeptidase was observed shortly after the induction of diabetes. It was partly or totally reversible following insulin treatment. Nondiabetic polyuria had a slight effect on the excretion of alanine aminopeptidase only. The urinary excretion of β2-microglobulin also rapidly increased after the onset of diabetes to a level approximately 50 times the control values. This effect was largely reversible with insulin treatment and was absent in the nondiabetic polyuric group. A small but significant 3-fold increase in albumin excretion was also noted but was not affected by insulin treatment. We conclude that streptozotocin-induced diabetes causes an early tubular dysfunction that is unrelated to polyuria and is reversible upon insulin treatment. This tubular dysfunction is best revealed by the urinary excretion of the low molecular weight protein β2-microglobulin. Our results suggest that it would be of interest to further examine the usefulness of sensitive markers of tubular dysfunction, especially low molecular weight proteinuria, in the detection of early stages of diabetic nephropathy.Key words: diabetic nephropathy, enzyme, urine, proteinuria, β2-microglobulin, streptozotocin, insulin, rat.

scholarly journals Tubular Dysfunction Mimicking Dent’s Disease in 2 Infants Born with Extremely Low Birth Weight

2017 ◽  
Vol 7 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Midori Awazu ◽  
Mie Arai ◽  
Shoko Ohashi ◽  
Hirotaka Takahashi ◽  
Takashi Sekine ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Extremely Low Birth Weight ◽  
Low Molecular Weight ◽  
Tubular Dysfunction ◽  
Low Molecular Weight Proteinuria ◽  
Proximal Tubular Dysfunction ◽  
Dent's Disease ◽  
Proximal Tubular

Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent’s disease, performed in patient 1, was negative. Although both patients had rickets of prematurity, tubular dysfunction persisted after its resolution. Patient 2, who had severe chronic lung disease, also had elevated serum creatinine, proteinuria, and hypertension, suggesting glomerular damage. In patient 1, low molecular weight proteinuria, enzymuria, panaminoaciduria, hypercalciuria, and renal calcification were still present at the age of 8 years. In patient 2, tubular dysfunction resolved except for β2 microglobulinuria at the age of 5 years. While a reduced nephron number resulting in focal segmental glomerulosclerosis is well-known, generalized proximal tubular dysfunction can also occur in infants born preterm and/or with extremely low birth weight.

scholarly journals Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.

1995 ◽  
Vol 5 (7) ◽  
pp. 1451-1461 ◽  
Author(s):  
S C Reinhart ◽  
A G Norden ◽  
M Lapsley ◽  
R V Thakker ◽  
J Pang ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Pericentromeric Region ◽  
Research Unit ◽  
Retinol Binding Protein ◽  
Low Molecular Weight ◽  
Disease Genes ◽  
Tubular Dysfunction ◽  
Low Molecular Weight Proteinuria ◽  
Beta 2 ◽  
Beta 2 Microglobulin

X-linked recessive nephrolithiasis (XRN) was described in a large kindred in which nephrolithiasis; proximal tubular dysfunction, proteinuria, nephrocalcinosis, and renal failure occur only in males. Carrier females are asymptomatic, but formal studies of them have not been done. The gene for XRN has been mapped to the pericentromeric region of the X chromosome, close to the loci for several eye disease genes. We studied six affected males, 13 carrier females, and 25 normal members of this family including 7 females whose genetic haplotype predicted them to be carriers. Studies were done in the Clinical Research Unit on a diet containing 400 mg of calcium and 2 g of sodium, and by an additional outpatient urine collection was obtained on a 1-g calcium intake. Hypercalciuria occurred in five of six affected males, 4 of 12 carrier females, and three of seven predicted carriers. Significant proteinuria was present in all affected males and in no other subjects. Low-molecular-weight proteinuria was present in all affected males: the excretion of alpha 1-microglobulin exceeded normal by 3- to 14-fold, of beta 2-microglobulin exceeded normal by 100- to 400-fold, and of retinol-binding protein exceeded normal by 1,000- to 3,000-fold. The excretion of these proteins was less strikingly elevated in carrier females, but the excretion of alpha 1-microglobulin was abnormal in 9 of 15 carriers, beta 2-microglobulin was abnormal in 12 of 15, and retinolbinding protein in was abnormal 12 of 13, and this pattern was similar in predicted carriers. The urinary concentrating ability was abnormal in four affected males with renal insufficiency but normal in all other subjects. Urinary wasting of potassium, phosphorous, and glucose occurred infrequently, and no subject was hypouricemic. Formal ophthalmologic studies were normal in five affected males. Thus, the most consistent urinary abnormalities in XRN are hypercalciuria and low-molecular-weight proteinuria, the latter of which appears to be a marker for the carrier state.

Lysozyme Excretion as a Measure of Renal Tubular Dysfunction in Children

1970 ◽  
Vol 39 (3) ◽  
pp. 457-465 ◽  
Author(s):  
T. M. Barratt ◽  
Rita Crawford
Keyword(s):  
Molecular Weight ◽  
Creatinine Clearance ◽  
Healthy Adults ◽  
Low Molecular Weight ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Clearance Ratio ◽  
Creatinine Concentration ◽  
Heavy Load ◽  
Protein Reabsorption

1. Activity of the low molecular weight enzyme lysozyme was measured in the plasma and urine of healthy adults and children and of children with renal disease. 2. No difference was detected between lysozyme excretion (expressed as the lysozyme/creatinine clearance ratio) of healthy adults and neonates, implying that the proximal tubular function of protein reabsorption is mature in the neonate. 3. The lysozyme/creatinine clearance ratio was not elevated in the nephrotic syndrome: thus a heavy load of filtered albumin does not interfere with low molecular weight protein reabsorption. 4. Very high values of lysozyme/creatinine clearance were observed in children with the Fanconi syndrome; there was no overlap with any other group studied. 5. Children with pyuria had a very slight increase in urine lysozyme/creatinine concentration ratio.

A high-performance oil-free backing pump for electron microscopes

1978 ◽  
Vol 36 (1) ◽  
pp. 110-111
Author(s):  
G.K.W. Balkau ◽  
E. Bez ◽  
J.L. Farrant
Keyword(s):  
Molecular Weight ◽  
Electron Microscope ◽  
Hot Spots ◽  
High Performance ◽  
Carbonaceous Material ◽  
Contamination Rate ◽  
Low Molecular Weight ◽  
Principal Source ◽  
Rotary Pumps ◽  
Electron Microscopes

The earliest account of the contamination of electron microscope specimens by the deposition of carbonaceous material during electron irradiation was published in 1947 by Watson who was then working in Canada. It was soon established that this carbonaceous material is formed from organic vapours, and it is now recognized that the principal source is the oil-sealed rotary pumps which provide the backing vacuum. It has been shown that the organic vapours consist of low molecular weight fragments of oil molecules which have been degraded at hot spots produced by friction between the vanes and the surfaces on which they slide. As satisfactory oil-free pumps are unavailable, it is standard electron microscope practice to reduce the partial pressure of organic vapours in the microscope in the vicinity of the specimen by using liquid-nitrogen cooled anti-contamination devices. Traps of this type are sufficient to reduce the contamination rate to about 0.1 Å per min, which is tolerable for many investigations.

Low-molecular-weight heparin in the prevention and treatment of thromboembolic disorders

1998 ◽  
Vol 1 (5) ◽  
pp. 166-174 ◽  
Author(s):  
Evelyn R Hermes De Santis ◽  
Betsy S Laumeister ◽  
Vidhu Bansal ◽  
Vandana Kataria ◽  
Preeti Loomba ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Low Molecular Weight Heparin ◽  
Low Molecular Weight ◽  
Prevention And Treatment
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